Re: Sorry for the confusion...

[Guest guest]

,

> Rob, if you read anything offensive in this post it is not

> intentional to hurt anyone's feelings. I found your reply to my first

> post very misjudging and hurtful.

Please, it is I who should apologise. When I read back what I'd written,

I was appalled and embarrassed that I could have been so rude and

unhelpful. Twice! I know you meant no offence, and thought I'd said so,

but I guess I expressed it poorly. I promise never again to post when

it's 37-degrees Celsius (that's 100 in the old-fashioned scale) with a

migraine when I'm tired - am I allowed to plead temporary insanity?

I'll try to make amends by helping where I can with your specific

concerns (mother or not ;-) ).

> I am very new to this condition

> and want to be informed when I go back to the doctor on the 15th of

> January. This is our first child, and the father and I understand

> there is a high chance our baby will have bleph.

If your doctor has time, point him/her at some journal papers which will

explain a lot and get them started. For example:

Oley & Baraitser, 'BPES Syndrome (Syndrome of the month)', Journal of

Medical Genetics (1988), vol 25, pp 47-51.

Elliot & Wallace, 'Ptosis with blepharophimosis and epicanthus

inversus', British Journal of Plastic Surgery (1986), vol 39, pp 244-248.

(Doctors have better access to these types of resources than we mortals do)

We were told the odds are 50% for each child. On the bright(-ish) side,

that also means there's a 50% chance your child WON'T have BPEI. (Is the

glass half empty, or...) Note also that BPEI, if present, might not be

fully expressed (i.e. might only have slight or partial symptoms). For

example, my father and my son both had/have very slight BPEI, invisible

to the untrained eye.

> Jon gave me

> permission to submit a photograph of him as a child and now so

> hopefully other males and females with this condition can see the

> type he has, and relate to our questions?

There is little difference as far as males are concerned between Type I

and Type II, except that Type I males tend to have more boy children and

Type II males have more girls. One can't tell the type by appearance,

unfortunately, methinks.

> If anyone knows other ways of obtaining medical records, please let me

> know.

It might be worth asking the surgeon/s who did the surgeries? My main

surgeon kept a full set of records at his office. (Until he retired,

then they got thrown out. D'oh!) So hey - ask fast, before Jon's

surgeon/s retire?!

I hope this has been helpful, and please don't be afraid to ask more

questions. I promise not to bite ever again (unless it's hot, or a full

moon ;-) ).

Rob

Deeply ashamed, wracked with remorse, and nearly 43.

[Guest guest]

Thats so interesting! the comment about males who have blephs, they can be type 1 or type 2...I didn't know that, havn't heard anything on it, don't know much about the whole thing though, its still so new! so much more to learn:)...Does anyone know how they do tests to find out if your type 1 type 2??? Is it a genetic test???...I am sure Rob will know something on this:)...let us know, thanks ...Oh, one more thing, theres pix of females after surgeries as adults, but no males, can anyone post one for us!... as our 2nd son Ethan has blephs, we would like to see pix of after surgeries, to give us an idea, woman can change there eyes just by wearing make-up if they want to:)...To all have a great and safe New-year!!!

-- Re: blepharophimosis Sorry for the confusion...

,> Rob, if you read anything offensive in this post it is not> intentional to hurt anyone's feelings. I found your reply to my first> post very misjudging and hurtful.Please, it is I who should apologise. When I read back what I'd written, I was appalled and embarrassed that I could have been so rude and unhelpful. Twice! I know you meant no offence, and thought I'd said so, but I guess I expressed it poorly. I promise never again to post when it's 37-degrees Celsius (that's 100 in the old-fashioned scale) with a migraine when I'm tired - am I allowed to plead temporary insanity?I'll try to make amends by helping where I can with your specific concerns (mother or not ;-) ).> I am very new to this condition > and want to be informed when I go back to the doctor on the 15th of > January. This is our first child, and the father and I understand > there is a high chance our baby will have bleph.If your doctor has time, point him/her at some journal papers which will explain a lot and get them started. For example:Oley & Baraitser, 'BPES Syndrome (Syndrome of the month)', Journal of Medical Genetics (1988), vol 25, pp 47-51.Elliot & Wallace, 'Ptosis with blepharophimosis and epicanthus inversus', British Journal of Plastic Surgery (1986), vol 39, pp 244-248.(Doctors have better access to these types of resources than we mortals do)We were told the odds are 50% for each child. On the bright(-ish) side, that also means there's a 50% chance your child WON'T have BPEI. (Is the glass half empty, or...) Note also that BPEI, if present, might not be fully expressed (i.e. might only have slight or partial symptoms). For example, my father and my son both had/have very slight BPEI, invisible to the untrained eye.> Jon gave me > permission to submit a photograph of him as a child and now so > hopefully other males and females with this condition can see the > type he has, and relate to our questions?There is little difference as far as males are concerned between Type I and Type II, except that Type I males tend to have more boy children and Type II males have more girls. One can't tell the type by appearance, unfortunately, methinks.> If anyone knows other ways of obtaining medical records, please let me > know.It might be worth asking the surgeon/s who did the surgeries? My main surgeon kept a full set of records at his office. (Until he retired, then they got thrown out. D'oh!) So hey - ask fast, before Jon's surgeon/s retire?!I hope this has been helpful, and please don't be afraid to ask more questions. I promise not to bite ever again (unless it's hot, or a full moon ;-) ).RobDeeply ashamed, wracked with remorse, and nearly 43.

[Guest guest]

leelee wrote:

> Thats so interesting! the comment about males who have blephs, they can be

> type 1 or type 2...I didn't know that, havn't heard anything on it, don't

> know much about the whole thing though, its still so new! so much more to

> learn:)...Does anyone know how they do tests to find out if your type 1 type

> 2??? Is it a genetic test???...

> I am sure Rob will know something on this:)..

> let us know, thanks

Oh gosh, now my bluff is really being called. I don't know if there's a

genetic test yet, I think it's still being refined. Is that what Kent

Small is collecting BPEI blood samples for? In the past, I think they

probably identified the two types by the sex of one's children if male

and one's (in-)fertility if female. There's also a slight difference in

the degree of 'penetrance' which requires large statistical samples to

spot. I wish I knew what that meant.

> ...Oh, one more thing, theres pix of females after

> surgeries as adults, but no males, can anyone post one for us!... as our

> 2nd son Ethan has blephs, we would like to see pix of after surgeries, to

> give us an idea, woman can change there eyes just by wearing make-up if they

> want to:)...To all have a great and safe New-year!!!

(Since I'm already responding, while I'm here...) Sorry, I have no

digital photos of me, and no means to make any. When I do, I'll post

them and you can use them at home for child-control purposes ( " eat your

vegetables or you'll end up like this man " ).

Rob